title: Shedding light on a painful rash.
abstract: We present a case of a rare inherited disorder--erythropoietic protoporphyria--with typical clinical manifestations. The diagnosis was suspected on the basis of a history of a light-sensitive rash and characteristic liver biopsy, and confirmed with genetic testing. The patient was followed up for more than 20 years, and ultimately developed the uncommon associated complication of liver cirrhosis. The clinical features, pathogenesis and management of erythropoietic protoporphyria are discussed herein.
authors.affiliation: Department of Medicine, Western University, London, Ontario, Canada. baljuda@uwo.ca
authors.forename: Bandar
authors.initials: B
authors.lastname: Al-Judaibi
authors.forename: Subrata
authors.initials: S
authors.lastname: Chakrabarti
authors.forename: Natasha
authors.initials: N
authors.lastname: Chandok
mesh_terms: D002648:Child; D005148:Facial Dermatoses / Q000175:diagnosis*; D006801:Humans; D008297:Male; D046351:Protoporphyria, Erythropoietic / Q000175:diagnosis* / Q000473:pathology